Julian Antonio Martinez

Title(s)Associate Professor, Human Genetics
SchoolMedicine
ORCID ORCID Icon0000-0001-6776-6949 Additional info
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    Other Positions
    Title(s)Associate Professor, Pediatrics

    Title(s)Associate Professor, Psychiatry and Biobehavioral Sciences


    Collapse Biography 
    Collapse Education and Training
    Yale University, New haven, CTMD/PhD05/2000Medicine/Neuroscience
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    Cell Press2021Faces of Cell

    Collapse Overview 
    Collapse Overview
    Julian A. Martinez-Agosto is a medical geneticist and developmental biologist who has served on the UCLA School of Medicine faculty since he joined the Department of Human Genetics in 2007. Dr. Martinez earned his B.S. in Biology and Spanish Literature at Yale University and pursued his medical training at Yale School of Medicine. He went on to train as a Pediatrician at Mattel Children’s Hospital UCLA. Dr. Martinez-Agosto was Chief Resident of the UCLA Intercampus Medical Genetics Program, where he trained as and currently is a board certified Medical Geneticist. He was a postdoctoral fellow in the laboratory of Utpal Banerjee at UCLA, where he worked on blood cell development in Drosophila. Dr. Martinez is a recipient of the Pediatric Department Outstanding Research Award, as well as the David W. Smith Pediatric Trainee Research Award of the Western Society for Pediatric Research, among other honors. Dr. Martinez-Agosto is a member of the Division of Medical Genetics, where he has maintained a clinical interest in genetic syndromes that lead to overgrowth, vascular malformations, and cancer predisposition. His laboratory research focuses on novel growth regulatory pathways in progenitor and stem cell maintenance and the study of human growth disorders with cancer predisposition.
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    Collapse Research Activities and Funding
    Stem cell- based studies of gene-environment interactions in PTEN- associated autism
    NIH R21HD084204Sep 1, 2016 - Aug 31, 2018
    Role: Co-Principal Investigator
    UCLA clinical site for the investigation of undiagnosed disorders
    NIH U01HG007703Jul 1, 2014 - Jun 30, 2022
    Role: Co-Principal Investigator
    An Emerging Model of a Hematopoietic Stem Cell Niche in Drosophila
    NIH K08HL087026Feb 5, 2007 - Jan 31, 2012
    Role: Principal Investigator
    MINORITY PREDOCTORAL FELLOWSHIP PROGRAM
    NIH F31EY006558Mar 30, 1994
    Role: Principal Investigator
    UCLA Intercampus Medical Genetics Training Program
    NIH T32GM008243Jul 1, 1987 - Jun 30, 2026
    Role: Co-Principal Investigator

    Collapse ORNG Applications 
    Collapse Clinical Trials

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    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Enhancing multi-site autism research through the development of a collaborative data platform. Autism Res. 2024 07; 17(7):1322-1327. Anderson JT, Roth JD, Rosenau KA, Dwyer PS, Kuo AA, Martinez-Agosto JA. PMID: 38794841.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Exploring the neurological features of individuals with germline PTEN variants: A multicenter study. Ann Clin Transl Neurol. 2024 May; 11(5):1301-1309. Dhawan A, Baitamouni S, Liu D, Busch R, Klaas P, Frazier TW, Srivastava S, Parikh S, Hsich GE, Friedman NR, Ritter DM, Hardan AY, Martinez-Agosto JA, Sahin M, Eng C. PMID: 38501559; PMCID: PMC11093251.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    3. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. J Clin Invest. 2024 Jan 02; 134(1). Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, Hakonarson H. PMID: 37962958; PMCID: PMC10760965.
      View in: PubMed   Mentions: 7     Fields:    
    4. Updates to the Autism Intervention Research Network on Physical Health (AIR-P) Research Agenda. Cureus. 2023 Aug; 15(8):e44388. Hotez E, Haley M, Martinez-Agosto JA, Anderson J, Brown H, Choi K, Croen LA, Dwyer P, Fernandes P, Gassner D, Giwa Onaiwu M, Gragnani CM, Graham Holmes L, Kapp S, Kim D, Massolo M, Montgomery B, Natri HM, Rava JA, Rosenau KA, Roth J, Rudolph D, Ryan JG, Shattuck P, Shea L, Williams ZJ, Wilson RB, Kuo A. PMID: 37779815; PMCID: PMC10541233.
      View in: PubMed   Mentions:
    5. Bloom syndrome patients and mice display accelerated epigenetic aging. Aging Cell. 2023 10; 22(10):e13964. Lee J, Zhang J, Flanagan M, Martinez JA, Cunniff C, Kucine N, Lu AT, Haghani A, Gordevicius J, Horvath S, Chang VY. PMID: 37594403; PMCID: PMC10577546.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    6. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genet Med. 2023 11; 25(11):100950. Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. PMID: 37551667.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    7. Ethical challenges in autism genomics: Recommendations for researchers. Eur J Med Genet. 2023 Sep; 66(9):104810. Natri HM, Chapman CR, Heraty S, Dwyer P, Walker N, Kapp SK, Dron HA, Martinez-Agosto JA, Mikkola L, Doherty M. PMID: 37478903.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    8. An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome. Pediatr Hematol Oncol. 2023; 40(8):800-806. Na B, Wang AC, Watterson CT, Martinez-Agosto J, Saitta S, Dutra-Clarke M, Bhansali F, Pineles SL, Chang VY, Shah VS, de Blank P. PMID: 37334681.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A. 2023 07; 191(7):1900-1910. Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. PMID: 37183572; PMCID: PMC10330231.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    10. Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation. BMC Med Genomics. 2023 03 29; 16(1):65. Fan J, Senaratne TN, Liu JY, Bina M, Martinez-Agosto JA, Quintero-Rivera F, Wang JJ. PMID: 36991446; PMCID: PMC10061865.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    11. Characterization of spastic paraplegia in a family with a novel PSEN1 mutation. Brain Commun. 2023; 5(2):fcad030. Ringman JM, Dorrani N, Fernández SG, Signer R, Martinez-Agosto J, Lee H, Douine ED, Qiao Y, Shi Y, D'Orazio L, Pawar S, Robbie L, Kashani AH, Singer M, Byers JT, Magaki S, Guzman S, Sagare A, Zlokovic B, Cederbaum S, Nelson S, Sheikh-Bahaei N, Chui HC, Chávez-Gutiérrez L, Vinters HV. PMID: 36895955; PMCID: PMC9991506.
      View in: PubMed   Mentions: 2  
    12. Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. J Neurodev Disord. 2023 01 14; 15(1):3. Busch RM, Frazier Ii TW, Sonneborn C, Hogue O, Klaas P, Srivastava S, Hardan AY, Martinez-Agosto JA, Sahin M, Eng C. PMID: 36641436; PMCID: PMC9840250.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    13. Epigenetic age provides insight into tissue origin in endometriosis. Sci Rep. 2022 12 08; 12(1):21281. Leap K, Yotova I, Horvath S, Martinez-Agosto JA. PMID: 36481772; PMCID: PMC9732286.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    14. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. Brain. 2022 09 14; 145(9):3308-3327. Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. PMID: 35851598; PMCID: PMC9473360.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimalsCells
    15. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. Am J Hum Genet. 2022 09 01; 109(9):1692-1712. Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. PMID: 36055214; PMCID: PMC9502063.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    16. The Autism Intervention Research Network on Physical Health (AIR-P) Research Agenda. Pediatrics. 2022 04 01; 149(Suppl 4). Kuo AA, Hotez E, Rosenau KA, Gragnani C, Fernandes P, Haley M, AIR-P NATIONAL COORDINATING CENTER, Rudolph D, Croen LA, Massolo ML, Holmes LG, Shattuck P, Shea L, Wilson R, Martinez-Agosto JA, Brown HM, Dwyer PSR, Gassner DL, Onaiwu MG, Kapp SK, Ne'eman A, Ryan JG, Waisman TC, Williams ZJ, AUTISTIC RESEARCHER REVIEW BOARD, DiBari JN, Foney DM, Ramos LR, Kogan MD. PMID: 35363290.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    17. The Autism Intervention Research Network on Physical Health (AIR-P) Charter. Pediatrics. 2022 04 01; 149(Suppl 4). Kuo AA, Hotez E, Rosenau KA, Gragnani C, Fernandes P, Haley M, AIR-P NATIONAL COORDINATING CENTER, Rudolph D, Croen LA, Massolo ML, Graham Holmes L, Shattuck P, Shea L, Wilson R, Martinez-Agosto JA, AIR-P STEERING COMMITTEE, Brown HM, Dwyer PSR, Gassner DL, Kapp SK, Ne'eman A, Ryan JG, Waisman TC, Williams ZJ, AUTISTIC RESEARCHER REVIEW BOARD, DiBari JN, Foney DM, Ramos LR, Kogan MD. PMID: 35363292.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    18. The Role of Genetic Testing Among Autistic Individuals. Pediatrics. 2022 04 01; 149(Suppl 4). Shafqat I, Rosenau KA, Martinez-Agosto JA. PMID: 35363284.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    19. Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study. J Am Acad Dermatol. 2023 Jul; 89(1):90-98. Morgan FC, Yehia L, McDonald C, Martinez-Agosto JA, Hardan AY, Tamburro J, Sahin M, Bayart C, Eng C, Developmental Synaptopathies Consortium. PMID: 35143913; PMCID: PMC9357227.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    20. Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations. Am J Med Genet A. 2021 11; 185(11):3401-3410. Uljarevic M, Frazier TW, Rached G, Busch RM, Klaas P, Srivastava S, Martinez-Agosto JA, Sahin M, Eng C, Hardan AY, Developmental Synaptopathies Consortium. PMID: 34423884; PMCID: PMC8530948.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    21. Psychiatric Characteristics Across Individuals With PTEN Mutations. Front Psychiatry. 2021; 12:672070. Steele M, Uljarevic M, Rached G, Frazier TW, Phillips JM, Libove RA, Busch RM, Klaas P, Martinez-Agosto JA, Srivastava S, Eng C, Sahin M, Hardan AY. PMID: 34489750; PMCID: PMC8418135.
      View in: PubMed   Mentions: 2  
    22. Wilms Tumor (Nephroblastoma), Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021 08 01; 19(8):945-977. Balis F, Green DM, Anderson C, Cook S, Dhillon J, Gow K, Hiniker S, Jasty-Rao R, Lin C, Lovvorn H, MacEwan I, Martinez-Agosto J, Mullen E, Murphy ES, Ranalli M, Rhee D, Rokitka D, Tracy EL, Vern-Gross T, Walsh MF, Walz A, Wickiser J, Zapala M, Berardi RA, Hughes M. PMID: 34416707.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    23. Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. PLoS Genet. 2021 07; 17(7):e1009651. Besterman AD, Althoff T, Elfferich P, Gutierrez-Mejia I, Sadik J, Bernstein JA, van Ierland Y, Kattentidt-Mouravieva AA, Nellist M, Abramson J, Martinez-Agosto JA. PMID: 34197453; PMCID: PMC8279410.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    24. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 07 01; 108(7):1330-1341. Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J, UCLA Clinical Genomics Center, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. PMID: 34102099; PMCID: PMC8322935.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCells
    25. Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome. J Med Genet. 2022 07; 59(7):719-722. Huang Y, Grand K, Kimonis V, Butler MG, Jain S, Huang AY, Martinez-Agosto JA, Nelson SF, Sanchez-Lara PA. PMID: 34099539.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    26. Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes. Sci Rep. 2021 05 28; 11(1):11295. Mullegama SV, Klein SD, Williams SR, Innis JW, Probst FJ, Haldeman-Englert C, Martinez-Agosto JA, Yang Y, Tian Y, Elsea SH, Ezashi T. PMID: 34050248; PMCID: PMC8163803.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    27. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021 05 21; 13(1):90. Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. PMID: 34020708; PMCID: PMC8140440.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    28. Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Sci Adv. 2021 05; 7(20). Li D, Wang Q, Gong NN, Kurolap A, Feldman HB, Boy N, Brugger M, Grand K, McWalter K, Guillen Sacoto MJ, Wakeling E, Hurst J, March ME, Bhoj EJ, Nowaczyk MJM, Gonzaga-Jauregui C, Mathew M, Dava-Wala A, Siemon A, Bartholomew D, Huang Y, Lee H, Martinez-Agosto JA, Schwaibold EMC, Brunet T, Choukair D, Pais LS, White SM, Christodoulou J, Brown D, Lindstrom K, Grebe T, Tiosano D, Kayser MS, Tan TY, Deardorff MA, Song Y, Hakonarson H. PMID: 33980485; PMCID: PMC8115915.
      View in: PubMed   Mentions: 18     Fields:    
    29. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet Med. 2021 08; 23(8):1465-1473. Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH, Undiagnosed Diseases Network, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. PMID: 33833410; PMCID: PMC8354857.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    30. EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet J Rare Dis. 2021 03 18; 16(1):136. Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF, UCLA California Center for Rare Disease, Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C. PMID: 33736665; PMCID: PMC7977188.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    31. Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys). Am J Med Genet A. 2021 05; 185(5):1430-1436. Chenbhanich J, Hu Y, Hetts S, Cooke D, Dowd C, Devine P, UCLA Clinical Genomics Center, Russell B, Kang SHL, Chang VY, Abla AA, Cornett P, Yeh I, Lee H, Martinez-Agosto JA, Frieden IJ, Shieh JT. PMID: 33683022.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    32. 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients. Am J Med Genet A. 2021 05; 185(5):1519-1524. Eno CC, Graakjaer J, Svaneby D, Nizon M, Kianmahd J, Signer R, Martinez-Agosto JA, Quintero-Rivera F. PMID: 33634591.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    33. Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. J Autism Dev Disord. 2022 Jan; 52(1):414-422. Uljarevic M, Frazier TW, Rached G, Busch RM, Klaas P, Srivastava S, Martinez-Agosto JA, Sahin M, Eng C, Hardan AY, Developmental Synaptopathies Consortium. PMID: 33595755; PMCID: PMC8479547.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    34. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Am J Med Genet A. 2021 05; 185(5):1366-1378. Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. PMID: 33522091; PMCID: PMC8048530.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    35. Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism. Mol Autism. 2021 01 28; 12(1):5. Frazier TW, Jaini R, Busch RM, Wolf M, Sadler T, Klaas P, Hardan AY, Martinez-Agosto JA, Sahin M, Eng C, Developmental Synaptopathies Consortium. PMID: 33509259; PMCID: PMC7841880.
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    36. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet. 2021 02 04; 108(2):357-367. Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V, Undiagnosed Diseases Network, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A, UCLA Clinical Genomics Center, John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. PMID: 33508234; PMCID: PMC7895901.
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    37. Expansion of NEUROD2 phenotypes to include developmental delay without seizures. Am J Med Genet A. 2021 04; 185(4):1076-1080. Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M, Undiagnosed Diseases Network, Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. PMID: 33438828; PMCID: PMC8212414.
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    38. 5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation. Hum Genet. 2021 Apr; 140(4):681-690. Quintero-Rivera F, Eno CC, Sutanto C, Jones KL, Nowaczyk MJM, Wong D, Earl D, Mirzaa G, Beck A, Martinez-Agosto JA. PMID: 33389145; PMCID: PMC8733961.
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    39. Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization. Am J Med Genet A. 2021 03; 185(3):894-900. Kopp N, Amarillo I, Martinez-Agosto J, Quintero-Rivera F. PMID: 33369065.
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    40. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain. 2020 12 05; 143(11):3242-3261. Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V, Deciphering Developmental Disorders Study, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG, Genomics England Research Consortium, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H, NIHR BioResource, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M, Undiagnosed Diseases Network, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA. PMID: 33150406; PMCID: PMC7719027.
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    41. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 12; 6(49). Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG, DDD Study, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD, Care4Rare Canada Consortium, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, CAUSES Study, Martin MG, Martinez-Agosto JA, Undiagnosed Diseases Network, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. PMID: 33268356; PMCID: PMC7821880.
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    42. Novel NUDT2 variant causes intellectual disability and polyneuropathy. Ann Clin Transl Neurol. 2020 11; 7(11):2320-2325. Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R, Undiagnosed Diseases Network, Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK. PMID: 33058507; PMCID: PMC7664258.
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    43. Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Mol Genet Genomic Med. 2020 10; 8(10):e1397. Cope H, Spillmann R, Rosenfeld JA, Brokamp E, Signer R, Schoch K, Glanton E, Sullivan JA, Macnamara E, Lincoln S, Golden-Grant K, Undiagnosed Diseases Network, Orengo JP, Clark G, Burrage LC, Posey JE, Punetha J, Robertson A, Cogan J, Phillips JA, Martinez-Agosto J, Shashi V. PMID: 32730690; PMCID: PMC7549585.
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    44. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. Am J Hum Genet. 2020 09 03; 107(3):544-554. Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H, UCLA Clinical Genomics Center, Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C. PMID: 32730804; PMCID: PMC7477272.
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    45. The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240). J Child Neurol. 2020 12; 35(14):953-962. Burdekin ED, Fogel BL, Jeste SS, Martinez J, Rexach JE, DiStefano C, Hyde C, Safari T, Wilson RB. PMID: 32705938; PMCID: PMC7674185.
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    46. The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service. Autism Res. 2020 09; 13(9):1450-1464. Besterman AD, Sadik J, Enenbach MJ, Quintero-Rivera F, DeAntonio M, Martinez-Agosto JA. PMID: 32662193.
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    47. De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. Am J Hum Genet. 2020 06 04; 106(6):830-845. Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert-Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N, Genomics England Research Consortium, Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogné B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C. PMID: 32442410; PMCID: PMC7273536.
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    48. Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 Apr; 22(4):822. Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM, Kini U, Mackay JP, Pierson TM. PMID: 32047287; PMCID: PMC11000750.
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    49. Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. Neuropathology. 2020 Jun; 40(3):302-307. Woods JD, Khanlou N, Lee H, Signer R, Shieh P, Chen J, Herzog M, Palmer C, Martinez-Agosto J, Undiagnosed Diseases Network, Nelson SF. PMID: 32037607; PMCID: PMC7317439.
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    50. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 05; 22(5):878-888. Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM, Kini U, Mackay JP, Pierson TM. PMID: 31949314; PMCID: PMC7920571.
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    51. Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling. Microrna. 2020; 9(1):70-80. Klein SD, Martinez-Agosto JA. PMID: 31232238; PMCID: PMC8405056.
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    52. A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma. Pediatr Blood Cancer. 2020 03; 67(3):e28103. Crane JN, Chang VY, Yong WH, Salamon N, Hane Lee for UCLA Clinical Genomics Center, Kianmahd J, Dorrani N, Martinez-Agosto JA, Davidson TB. PMID: 31793173; PMCID: PMC7307637.
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    53. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med. 2020 03; 22(3):538-546. Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Undiagnosed Diseases Network, , Eichler EE, Vincent JB, University of Washington Center for Mendelian Genomics (UW-CMG), , Bamshad MJ. PMID: 31723249; PMCID: PMC7060121.
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    54. Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway. Am J Med Genet A. 2019 12; 179(12):2517-2531. Klein SD, Nguyen DC, Bhakta V, Wong D, Chang VY, Davidson TB, Martinez-Agosto JA. PMID: 31639285; PMCID: PMC7346528.
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    55. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 03; 22(3):490-499. Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF. PMID: 31607746; PMCID: PMC7405636.
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    56. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry. 2019 10 08; 9(1):253. Busch RM, Srivastava S, Hogue O, Frazier TW, Klaas P, Hardan A, Martinez-Agosto JA, Sahin M, Eng C, Developmental Synaptopathies Consortium. PMID: 31594918; PMCID: PMC6783427.
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    57. Phenotype delineation of ZNF462 related syndrome. Am J Med Genet A. 2019 10; 179(10):2075-2082. Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. PMID: 31361404; PMCID: PMC6935050.
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    58. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019 12; 21(12):2723-2733. Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, DDD Study, Sticht H, Gregor A, Van Esch H, Zweier C. PMID: 31239556; PMCID: PMC6892744.
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    59. Is polycystic kidney disease associated with malignancy in children? Mol Genet Genomic Med. 2019 07; 7(7):e00725. Friend BD, Wolfe Schneider K, Garrington T, Truscott L, Martinez-Agosto JA, Venick RS, Tsai Chambers E, Weng P, Farmer DG, Chang VY, Federman N. PMID: 31197971; PMCID: PMC6625336.
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    60. Next generation sequencing in clinical diagnosis. Lancet Neurol. 2019 May; 18(5):426. Lee H, Martinez-Agosto JA, Rexach J, Fogel BL. PMID: 30981320.
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    61. Clinical application of next-generation sequencing to the practice of neurology. Lancet Neurol. 2019 05; 18(5):492-503. Rexach J, Lee H, Martinez-Agosto JA, Németh AH, Fogel BL. PMID: 30981321; PMCID: PMC7055532.
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    62. De novo and biallelic DEAF1 variants cause a phenotypic spectrum. Genet Med. 2019 09; 21(9):2059-2069. Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT. PMID: 30923367.
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    63. Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis. ACG Case Rep J. 2019 Mar; 6(3):1-3. Chan AP, Mulatinho M, Iskander P, Lee H, Martinez-Agosto JA, Yeh J. PMID: 31620490; PMCID: PMC6658016.
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    64. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. Am J Hum Genet. 2018 12 06; 103(6):948-967. Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M, Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV. PMID: 30526868; PMCID: PMC6288279.
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    65. ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genet Med. 2019 07; 21(7):1585-1593. Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R, Undiagnosed Diseases Network, Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G. PMID: 30514889; PMCID: PMC6551315.
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    66. Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. Mol Genet Genomic Med. 2019 02; 7(2):e00501. Mullegama SV, Klein SD, Signer RH, UCLA Clinical Genomics Center, Vilain E, Martinez-Agosto JA. PMID: 30447054; PMCID: PMC6393687.
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    67. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 09 06; 103(3):456. Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. PMID: 30193138; PMCID: PMC6128320.
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    68. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Genet Med. 2019 04; 21(4):1008-1014. Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A. PMID: 30166628.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    69. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 08 02; 103(2):245-260. Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. PMID: 30057031; PMCID: PMC6081494.
      View in: PubMed   Mentions: 36     Fields:    
    70. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. 2017 12; 19(12). Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto JA. PMID: 28933790.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    71. 37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting. Am J Med Genet A. 2017 08; 173(8):2007-2073. Keppler-Noreuil KM, Martinez-Agosto JA, Hudgins L, Carey JC. PMID: 28544249.
      View in: PubMed   Mentions: 1     Fields:    
    72. Nomenclature and definition in asymmetric regional body overgrowth. Am J Med Genet A. 2017 Jul; 173(7):1735-1738. Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC. PMID: 28475229; PMCID: PMC5932268.
      View in: PubMed   Mentions: 26     Fields:    
    73. The TEAD family transcription factor Scalloped regulates blood progenitor maintenance and proliferation in Drosophila through PDGF/VEGFR receptor (Pvr) signaling. Dev Biol. 2017 05 01; 425(1):21-32. Ferguson GB, Martinez-Agosto JA. PMID: 28322737.
      View in: PubMed   Mentions: 13     Fields:    Translation:AnimalsCells
    74. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. Am J Med Genet A. 2017 May; 173(5):1319-1327. Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K, UCLA Clinical Genomics Center, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA. PMID: 28296084; PMCID: PMC7033032.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    75. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol. 2017 03 06; 18(1):36. Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. PMID: 28260531; PMCID: PMC5338099.
      View in: PubMed   Mentions: 85     Fields:    Translation:Humans
    76. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351. Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. PMID: 28132692; PMCID: PMC5294886.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    77. Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies. Am J Med Genet C Semin Med Genet. 2016 12; 172(4):402-421. Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA. PMID: 27860216; PMCID: PMC5592089.
      View in: PubMed   Mentions: 115     Fields:    Translation:HumansCells
    78. Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation. Pediatr Blood Cancer. 2017 01; 64(1):100-102. Truscott L, Gell J, Chang VY, Lee H, Strom SP, Pillai R, Sisk A, Martinez-Agosto JA, Anderson M, Federman N. PMID: 27577987; PMCID: PMC5937546.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    79. Truncating mutations in APP cause a distinct neurological phenotype. Ann Neurol. 2016 Sep; 80(3):456-60. Klein S, Goldman A, Lee H, Ghahremani S, Bhakta V, UCLA Clinical Genomics Center, Nelson SF, Martinez-Agosto JA. PMID: 27422356; PMCID: PMC7034636.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    80. Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. Mol Genet Metab. 2016 09; 119(1-2):91-9. Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE. PMID: 27448789.
      View in: PubMed   Mentions: 52     Fields:    Translation:HumansAnimalsCellsPHPublic Health
    81. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Eur J Hum Genet. 2015 Nov; 23(11):1473-81. Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wisniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. PMID: 25944381; PMCID: PMC4613469.
      View in: PubMed   Mentions: 69     Fields:    Translation:Humans
    82. Insulin- and warts-dependent regulation of tracheal plasticity modulates systemic larval growth during hypoxia in Drosophila melanogaster. PLoS One. 2014; 9(12):e115297. Wong DM, Shen Z, Owyang KE, Martinez-Agosto JA. PMID: 25541690; PMCID: PMC4277339.
      View in: PubMed   Mentions: 15     Fields:    Translation:AnimalsCells
    83. Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion. Gene. 2015 Feb 10; 556(2):249-53. Gallant NM, Gui D, Lassman CR, Yong WH, Teitell M, Mandelker D, Lorey F, Martinez-Agosto JA, Quintero-Rivera F. PMID: 25434494.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    84. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12; 312(18):1880-7. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. PMID: 25326637; PMCID: PMC4278636.
      View in: PubMed   Mentions: 476     Fields:    Translation:Humans
    85. Yorkie and Scalloped signaling regulates Notch-dependent lineage specification during Drosophila hematopoiesis. Curr Biol. 2014 Nov 17; 24(22):2665-72. Ferguson GB, Martinez-Agosto JA. PMID: 25454586; PMCID: PMC4256154.
      View in: PubMed   Mentions: 32     Fields:    Translation:AnimalsCells
    86. Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. J Med Genet. 2014 May; 51(5):294-302. Klein S, Lee H, Ghahremani S, Kempert P, Ischander M, Teitell MA, Nelson SF, Martinez-Agosto JA. PMID: 24676357; PMCID: PMC4429769.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    87. Kicking it up a Notch for the best in show: Scalloped leads Yorkie into the haematopoietic arena. Fly (Austin). 2014; 8(4):206-17. Ferguson GB, Martinez-Agosto JA. PMID: 26151599; PMCID: PMC4594362.
      View in: PubMed   Mentions: 9     Fields:    Translation:AnimalsCells
    88. Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. Am J Med Genet A. 2013 Aug; 161A(8):1985-91. Quintero-Rivera F, Martinez-Agosto JA. PMID: 23794175.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    89. Extracellular matrix-modulated Heartless signaling in Drosophila blood progenitors regulates their differentiation via a Ras/ETS/FOG pathway and target of rapamycin function. Dev Biol. 2013 Dec 15; 384(2):313-30. Dragojlovic-Munther M, Martinez-Agosto JA. PMID: 23603494; PMCID: PMC4256155.
      View in: PubMed   Mentions: 30     Fields:    Translation:AnimalsCells
    90. Macrocephaly as a clinical indicator of genetic subtypes in autism. Autism Res. 2013 Feb; 6(1):51-6. Klein S, Sharifi-Hannauer P, Martinez-Agosto JA. PMID: 23361946; PMCID: PMC3581311.
      View in: PubMed   Mentions: 49     Fields:    Translation:Humans
    91. Support for calcium channel gene defects in autism spectrum disorders. Mol Autism. 2012 Dec 15; 3(1):18. Lu AT, Dai X, Martinez-Agosto JA, Cantor RM. PMID: 23241247; PMCID: PMC3558437.
      View in: PubMed   Mentions: 45     Fields:    
    92. Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway. Cells. 2012 Oct 19; 1(4):886-904. Chiang J, Martinez-Agosto JA. PMID: 24710534; PMCID: PMC3901137.
      View in: PubMed   Mentions: 10     Fields:    
    93. Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome. Pediatr Blood Cancer. 2013 Apr; 60(4):570-4. Chang VY, Federman N, Martinez-Agosto J, Tatishchev SF, Nelson SF. PMID: 23015295; PMCID: PMC4170733.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    94. Multifaceted roles of PTEN and TSC orchestrate growth and differentiation of Drosophila blood progenitors. Development. 2012 Oct; 139(20):3752-63. Dragojlovic-Munther M, Martinez-Agosto JA. PMID: 22951642; PMCID: PMC3445307.
      View in: PubMed   Mentions: 32     Fields:    Translation:AnimalsCells
    95. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92. Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. PMID: 22634751; PMCID: PMC3386373.
      View in: PubMed   Mentions: 78     Fields:    Translation:HumansAnimalsCells
    96. Phenotypic progression of skeletal anomalies in CLOVES syndrome. Am J Med Genet A. 2012 Jul; 158A(7):1690-5. Klein S, Stroberg A, Ghahremani S, Martinez-Agosto JA. PMID: 22628280.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    97. Stem cell niche dynamics: from homeostasis to carcinogenesis. Stem Cells Int. 2012; 2012:367567. Tieu KS, Tieu RS, Martinez-Agosto JA, Sehl ME. PMID: 22448171; PMCID: PMC3289927.
      View in: PubMed   Mentions: 7  
    98. Interaction between differentiating cell- and niche-derived signals in hematopoietic progenitor maintenance. Cell. 2011 Dec 23; 147(7):1589-600. Mondal BC, Mukherjee T, Mandal L, Evans CJ, Sinenko SA, Martinez-Agosto JA, Banerjee U. PMID: 22196733; PMCID: PMC4403793.
      View in: PubMed   Mentions: 108     Fields:    Translation:AnimalsCells
    99. B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis. Pediatr Blood Cancer. 2011 Mar; 56(3):470-3. Chang VY, Quintero-Rivera F, Baldwin EE, Woo K, Martinez-Agosto JA, Fu C, Gomperts BN. PMID: 21225931.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    100. Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome. J Paediatr Child Health. 2010 Nov; 46(11):693-5. Quintero-Rivera F, Martinez-Agosto JA. PMID: 20163525.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    101. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. Am J Med Genet A. 2010 Oct; 152A(10):2459-67. Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA. PMID: 20830797.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansCells
    102. Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency. Hum Mol Genet. 2010 Mar 01; 19(5):861-78. Cheli VT, Daniels RW, Godoy R, Hoyle DJ, Kandachar V, Starcevic M, Martinez-Agosto JA, Poole S, DiAntonio A, Lloyd VK, Chang HC, Krantz DE, Dell'Angelica EC. PMID: 20015953; PMCID: PMC2816613.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansAnimalsCells
    103. Dual role of wingless signaling in stem-like hematopoietic precursor maintenance in Drosophila. Dev Cell. 2009 May; 16(5):756-63. Sinenko SA, Mandal L, Martinez-Agosto JA, Banerjee U. PMID: 19460351; PMCID: PMC2718753.
      View in: PubMed   Mentions: 85     Fields:    Translation:AnimalsCells
    104. Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. Pediatr Transplant. 2008 Mar; 12(2):246-50. Bui YK, Renella P, Martinez-Agosto JA, Verity A, Madikians A, Alejos JC. PMID: 18282207.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    105. The hematopoietic stem cell and its niche: a comparative view. Genes Dev. 2007 Dec 01; 21(23):3044-60. Martinez-Agosto JA, Mikkola HK, Hartenstein V, Banerjee U. PMID: 18056420.
      View in: PubMed   Mentions: 94     Fields:    Translation:HumansAnimalsCells
    106. A Hedgehog- and Antennapedia-dependent niche maintains Drosophila haematopoietic precursors. Nature. 2007 Mar 15; 446(7133):320-4. Mandal L, Martinez-Agosto JA, Evans CJ, Hartenstein V, Banerjee U. PMID: 17361183; PMCID: PMC2807630.
      View in: PubMed   Mentions: 153     Fields:    Translation:AnimalsCells
    107. Conserved family of glycerol kinase loci in Drosophila melanogaster. Mol Genet Metab. 2006 Aug; 88(4):334-45. Martinez Agosto JA, McCabe ER. PMID: 16545593; PMCID: PMC2807631.
      View in: PubMed   Mentions: 14     Fields:    Translation:AnimalsCells
    108. Familial bilateral abductor vocal cord paralysis. Int J Pediatr Otorhinolaryngol. 2005 Dec; 69(12):1693-6. Tarin TT, Martinez JA, Shapiro NL. PMID: 15978674.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    109. Single-gene disorders: what role could moonlighting enzymes play? Am J Hum Genet. 2005 Jun; 76(6):911-24. Sriram G, Martinez JA, McCabe ER, Liao JC, Dipple KM. PMID: 15877277; PMCID: PMC1196451.
      View in: PubMed   Mentions: 80     Fields:    Translation:HumansAnimalsCells
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